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Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C. Fanin M, et al. Among authors: ventriglia vm. Hum Mutat. 2004 Jul;24(1):52-62. doi: 10.1002/humu.20058. Hum Mutat. 2004. PMID: 15221789
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V. Piluso G, et al. Among authors: ventriglia vm. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.
Rinaldi F, Botta A, Vallo L, Contino G, Morgante A, Iraci R, Catalli C, Silvestri G, Ventriglia VM, Politano L, Novelli G. Rinaldi F, et al. Among authors: ventriglia vm. Acta Myol. 2008 Dec;27(3):82-9. Acta Myol. 2008. PMID: 19472917 Free PMC article.